Canonical Allele Identifier: CA446210843

Gene: APC

Linked Data

• ClinVar Variation Id: 470091
• ClinVar RCV Id: RCV001026495 ; RCV003999429 ; RCV003767042
• dbSNP Id: rs776327733
• gnomAD v4: 5-112843085-G-C
• MyVariant Identifiers: chr5:g.112178782G>C (hg19) ; chr5:g.112843085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843085G>C , CM000667.2:g.112843085G>C	GRCh38
NC_000005.9:g.112178782G>C , CM000667.1:g.112178782G>C	GRCh37
NC_000005.8:g.112206681G>C	NCBI36
NG_008481.4:g.155565G>C , LRG_130:g.155565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7545G>C	ENSP00000473355.2:p.Ser2515=
ENST00000505350.2:c.*7497G>C	ENSP00000481752.1:n.*7497G>C
ENST00000507379.6:c.7437G>C	ENSP00000423224.2:p.Ser2479=
ENST00000509732.6:c.7491G>C	ENSP00000426541.2:p.Ser2497=
ENST00000512211.7:c.7491G>C	ENSP00000423828.3:p.Ser2497=
ENST00000257430.9:c.7491G>C MANE Select	ENSP00000257430.4:p.Ser2497=
ENST00000257430.8:c.7491G>C	ENSP00000257430.4:p.Ser2497=
ENST00000508376.6:c.7491G>C	ENSP00000427089.2:p.Ser2497=
ENST00000520401.1:c.231-13564G>C
NM_000038.5:c.7491G>C	NP_000029.2:p.Ser2497=
NM_001127510.2:c.7491G>C	NP_001120982.1:p.Ser2497=
NM_001127511.2:c.7437G>C	NP_001120983.2:p.Ser2479=
NM_001354895.1:c.7491G>C	NP_001341824.1:p.Ser2497=
NM_001354896.1:c.7545G>C	NP_001341825.1:p.Ser2515=
NM_001354897.1:c.7521G>C	NP_001341826.1:p.Ser2507=
NM_001354898.1:c.7416G>C	NP_001341827.1:p.Ser2472=
NM_001354899.1:c.7407G>C	NP_001341828.1:p.Ser2469=
NM_001354900.1:c.7368G>C	NP_001341829.1:p.Ser2456=
NM_001354901.1:c.7314G>C	NP_001341830.1:p.Ser2438=
NM_001354902.1:c.7218G>C	NP_001341831.1:p.Ser2406=
NM_001354903.1:c.7188G>C	NP_001341832.1:p.Ser2396=
NM_001354904.1:c.7113G>C	NP_001341833.1:p.Ser2371=
NM_001354905.1:c.7011G>C	NP_001341834.1:p.Ser2337=
NM_001354906.1:c.6642G>C	NP_001341835.1:p.Ser2214=
NM_000038.6:c.7491G>C MANE Select	NP_000029.2:p.Ser2497=
NM_001127510.3:c.7491G>C	NP_001120982.1:p.Ser2497=
NM_001127511.3:c.7437G>C	NP_001120983.2:p.Ser2479=
NM_001354895.2:c.7491G>C	NP_001341824.1:p.Ser2497=
NM_001354896.2:c.7545G>C	NP_001341825.1:p.Ser2515=
NM_001354897.2:c.7521G>C	NP_001341826.1:p.Ser2507=
NM_001354898.2:c.7416G>C	NP_001341827.1:p.Ser2472=
NM_001354899.2:c.7407G>C	NP_001341828.1:p.Ser2469=
NM_001354900.2:c.7368G>C	NP_001341829.1:p.Ser2456=
NM_001354901.2:c.7314G>C	NP_001341830.1:p.Ser2438=
NM_001354902.2:c.7218G>C	NP_001341831.1:p.Ser2406=
NM_001354903.2:c.7188G>C	NP_001341832.1:p.Ser2396=
NM_001354904.2:c.7113G>C	NP_001341833.1:p.Ser2371=
NM_001354905.2:c.7011G>C	NP_001341834.1:p.Ser2337=
NM_001354906.2:c.6642G>C	NP_001341835.1:p.Ser2214=